ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.2262G>A (p.Leu754=)

gnomAD frequency: 0.00155  dbSNP: rs150428337
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175389 SCV000226863 benign not specified 2015-05-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000911517 SCV001056587 benign not provided 2025-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000911517 SCV001824084 likely benign not provided 2019-02-08 criteria provided, single submitter clinical testing

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